Incidental Mutation 'IGL02605:Or51r1'
ID 300224
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or51r1
Ensembl Gene ENSMUSG00000073975
Gene Name olfactory receptor family 51 subfamily R member 1
Synonyms GA_x6K02T2PBJ9-5297243-5298193, Olfr550, MOR16-1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # IGL02605
Quality Score
Status
Chromosome 7
Chromosomal Location 102220638-102228869 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 102228602 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 300 (I300T)
Ref Sequence ENSEMBL: ENSMUSP00000149536 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098225] [ENSMUST00000213540] [ENSMUST00000216524]
AlphaFold E9Q544
Predicted Effect probably damaging
Transcript: ENSMUST00000098225
AA Change: I300T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000095828
Gene: ENSMUSG00000073975
AA Change: I300T

DomainStartEndE-ValueType
Pfam:7tm_4 32 311 6.2e-102 PFAM
Pfam:7TM_GPCR_Srsx 36 156 1.8e-10 PFAM
Pfam:7tm_1 42 293 4.6e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213540
Predicted Effect probably damaging
Transcript: ENSMUST00000216524
AA Change: I300T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb2 A T 2: 103,547,602 (GRCm39) Y992F probably benign Het
Adgrg6 T A 10: 14,342,976 (GRCm39) N324Y probably damaging Het
Ampd3 T C 7: 110,394,965 (GRCm39) F305L probably benign Het
Ankrd35 A G 3: 96,588,388 (GRCm39) probably null Het
Api5 A G 2: 94,260,064 (GRCm39) I64T possibly damaging Het
Arhgap21 A G 2: 20,860,399 (GRCm39) I1165T probably damaging Het
Bdp1 T C 13: 100,214,623 (GRCm39) probably null Het
Capn3 T A 2: 120,326,518 (GRCm39) I570N probably damaging Het
Catsperg2 T C 7: 29,418,990 (GRCm39) H232R possibly damaging Het
Clcn7 T C 17: 25,365,792 (GRCm39) L156P possibly damaging Het
Cpa3 C A 3: 20,276,376 (GRCm39) V286F probably benign Het
Csrnp3 G A 2: 65,853,153 (GRCm39) C527Y probably damaging Het
Dock5 A T 14: 68,065,887 (GRCm39) V372E probably benign Het
Elmo1 T C 13: 20,789,372 (GRCm39) L696P probably damaging Het
Fam91a1 T C 15: 58,303,045 (GRCm39) probably benign Het
Gm12695 T A 4: 96,650,988 (GRCm39) D155V probably null Het
Hspa4l A G 3: 40,736,055 (GRCm39) I559V probably benign Het
Kdm1a G T 4: 136,278,348 (GRCm39) probably benign Het
Lrrc8d A T 5: 105,974,683 (GRCm39) noncoding transcript Het
Minpp1 A T 19: 32,475,815 (GRCm39) Y316F possibly damaging Het
Neto2 T C 8: 86,390,064 (GRCm39) probably benign Het
Nrxn2 T A 19: 6,500,610 (GRCm39) D277E probably benign Het
Ola1 A G 2: 72,972,644 (GRCm39) probably benign Het
Or4k48 A G 2: 111,475,850 (GRCm39) V164A probably benign Het
Or8c15 T A 9: 38,120,532 (GRCm39) M61K probably damaging Het
Pam A G 1: 97,768,064 (GRCm39) V722A possibly damaging Het
Pfdn6 T C 17: 34,158,077 (GRCm39) Y90C probably benign Het
Pkhd1 T A 1: 20,621,126 (GRCm39) H844L possibly damaging Het
Plk5 G A 10: 80,198,896 (GRCm39) V422M probably damaging Het
Psmc1 G T 12: 100,085,386 (GRCm39) R249L probably damaging Het
Ptpro C T 6: 137,357,316 (GRCm39) P269L probably benign Het
Ralgapa1 G T 12: 55,759,450 (GRCm39) H1480Q possibly damaging Het
Rars1 G A 11: 35,715,353 (GRCm39) probably benign Het
Rbm48 G A 5: 3,640,600 (GRCm39) R260C possibly damaging Het
Smarcc1 C T 9: 110,051,068 (GRCm39) H963Y possibly damaging Het
Spef2 T C 15: 9,725,238 (GRCm39) E230G probably damaging Het
Spg11 A G 2: 121,922,741 (GRCm39) S903P probably benign Het
Tas2r122 T C 6: 132,688,572 (GRCm39) Y107C probably damaging Het
Tpm3 C A 3: 89,995,753 (GRCm39) N204K probably benign Het
Wdr36 T C 18: 32,985,044 (GRCm39) I450T possibly damaging Het
Other mutations in Or51r1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01946:Or51r1 APN 7 102,227,734 (GRCm39) splice site probably null
IGL03365:Or51r1 APN 7 102,227,836 (GRCm39) missense probably benign
R0180:Or51r1 UTSW 7 102,228,239 (GRCm39) missense probably damaging 1.00
R3854:Or51r1 UTSW 7 102,228,227 (GRCm39) missense probably damaging 1.00
R5337:Or51r1 UTSW 7 102,228,481 (GRCm39) missense probably damaging 1.00
R5606:Or51r1 UTSW 7 102,228,481 (GRCm39) missense probably damaging 1.00
R5646:Or51r1 UTSW 7 102,228,512 (GRCm39) missense possibly damaging 0.84
R6009:Or51r1 UTSW 7 102,227,801 (GRCm39) missense possibly damaging 0.86
R6751:Or51r1 UTSW 7 102,227,706 (GRCm39) start codon destroyed probably null
R7767:Or51r1 UTSW 7 102,220,971 (GRCm39) start gained probably benign
R8701:Or51r1 UTSW 7 102,227,899 (GRCm39) missense possibly damaging 0.54
R9074:Or51r1 UTSW 7 102,228,433 (GRCm39) missense probably damaging 0.99
R9101:Or51r1 UTSW 7 102,228,137 (GRCm39) missense probably benign 0.22
R9151:Or51r1 UTSW 7 102,228,500 (GRCm39) missense probably damaging 1.00
R9745:Or51r1 UTSW 7 102,227,861 (GRCm39) missense probably damaging 0.98
X0067:Or51r1 UTSW 7 102,227,707 (GRCm39) missense unknown
Posted On 2015-04-16